Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia

Br J Haematol. 2003 Nov;123(3):469-71. doi: 10.1046/j.1365-2141.2003.04640.x.


Fanconi anaemia (FA) is a chromosomal instability disorder associated with a high risk of acute myeloid leukaemia (AML). Previous work has shown that the AML cell line CHRF-288, derived from a sporadic AML-M7 patient, does not express FANCF protein and exhibits a cellular FA phenotype. We show that this phenotype is corrected by a FANCF-expressing plasmid and that the absence of FANCF protein is explained by hypermethylation of the promoter region of the FANCF gene. As FANCF is localized in a hot-spot region for somatic hypermethylation (11p15), FANCF silencing might be an early step in sporadic carcinogenesis, including leukaemogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Alleles
  • Cell Line, Tumor
  • DNA Methylation
  • Fanconi Anemia / genetics
  • Fanconi Anemia Complementation Group F Protein
  • Gene Silencing*
  • Humans
  • Leukemia, Myeloid / genetics*
  • RNA-Binding Proteins / genetics*


  • FANCF protein, human
  • Fanconi Anemia Complementation Group F Protein
  • RNA-Binding Proteins